Canonical Allele Identifier: CA2634881241

Gene: PIEZO1 HSALR1

Linked Data

• gnomAD v4: 16-88733987-C-CCTCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88733989_88733990insCCTGCT , CM000678.2:g.88733989_88733990insCCTGCT	GRCh38
NC_000016.9:g.88800397_88800398insCCTGCT , CM000678.1:g.88800397_88800398insCCTGCT	GRCh37
NC_000016.8:g.87327898_87327899insCCTGCT	NCBI36
NG_042229.1:g.56233_56234insCAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301015.14:c.2247_2248insCAGGAG (PIEZO1) MANE Select	ENSP00000301015.9:p.Gln749_Glu750insGlnGlu
ENST00000301015.13:c.2247_2248insCAGGAG (PIEZO1)	ENSP00000301015.9:p.Gln749_Glu750insGlnGlu
NM_001142864.2:c.2247_2248insCAGGAG (PIEZO1)	NP_001136336.2:p.Gln749_Glu750insGlnGlu
NM_001142864.3:c.2247_2248insCAGGAG (PIEZO1)	NP_001136336.2:p.Gln749_Glu750insGlnGlu
NR_103774.1:n.269+2541_269+2542insCCTGCT (HSALR1)
NM_001142864.4:c.2247_2248insCAGGAG (PIEZO1) MANE Select	NP_001136336.2:p.Gln749_Glu750insGlnGlu